Canonical Allele Identifier: CA2532302667

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308821_55308822insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG , CM000681.2:g.55308821_55308822insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	GRCh38
NC_000019.9:g.55820189_55820190insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG , CM000681.1:g.55820189_55820190insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	GRCh37
NC_000019.8:g.60512001_60512002insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG MANE Select	ENSP00000310649.1:n.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGG...
ENST00000309383.5:c.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	ENSP00000310649.1:n.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGG...
ENST00000326848.7:c.1264+93_1264+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	ENSP00000320853.7:n.1264+93_1264+94insCCGTGGGTGGCGGGGGGCGGGGG...
ENST00000590333.5:c.2227+93_2227+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	ENSP00000468190.1:n.2227+93_2227+94insCCGTGGGTGGCGGGGGGCGGGGG...
NM_032430.1:c.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	NP_115806.1:n.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGG...
XM_005259327.2:c.1909+93_1909+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	XP_005259384.1:n.1909+93_1909+94insCCGTGGGTGGCGGGGGGCGGGGGTGG...
XM_011527395.1:c.1936+93_1936+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	XP_011525697.1:n.1936+93_1936+94insCCGTGGGTGGCGGGGGGCGGGGGTGG...
XR_430213.2:n.2162+93_2162+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG
XM_005259327.3:c.1909+93_1909+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	XP_005259384.1:n.1909+93_1909+94insCCGTGGGTGGCGGGGGGCGGGGGTGG...
XM_011527395.2:c.1651+93_1651+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	XP_011525697.2:n.1651+93_1651+94insCCGTGGGTGGCGGGGGGCGGGGGTGG...
XM_024451739.1:c.1954+93_1954+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG	XP_024307507.1:n.1954+93_1954+94insCCGTGGGTGGCGGGGGGCGGGGGTGG...
XR_430213.4:n.2460+93_2460+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG
NM_032430.2:c.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGGGGG MANE Select	NP_115806.1:n.2179+93_2179+94insCCGTGGGTGGCGGGGGGCGGGGGTGGCGG...